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1 cblC gene lead to methylmalonic aciduria and homocystinuria.
2 th, liver damage, and osteoporosis in murine homocystinuria.
3  in CblD cause methylmalonic aciduria and/or homocystinuria.
4 abolism, and its inherited deficiency causes homocystinuria.
5 peutical approach to pyridoxine unresponsive homocystinuria.
6 del of cystathionine beta-synthase-deficient homocystinuria.
7 st common locus of mutations associated with homocystinuria.
8 ated in the pathogenic mechanisms underlying homocystinuria.
9 change in connective tissue function seen in homocystinuria.
10 st common locus of mutations associated with homocystinuria.
11           Inherited deficiency of CBS causes homocystinuria.
12 lopment of connective tissue defects seen in homocystinuria.
13 ion and is the enzyme deficient in classical homocystinuria.
14 aining the molecular basis of the associated homocystinuria.
15 lism, and malfunction of the enzyme leads to homocystinuria, a devastating metabolic disease.
16 onine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by ex
17          Mutations in CBS are known to cause homocystinuria, an inborn error in metabolism.
18 st common clinical variant of MTR and causes homocystinuria, an inborn error of metabolism that is as
19 ccumulation of L-homocysteine, are linked to homocystinuria and cardiovascular diseases.
20  amino acid homocysteine (HC) accumulates in homocystinuria and homocyst(e)inemia, and is associated
21  findings suggest a new drug target to treat homocystinuria and homocysteine-related vascular disease
22 substrates of CBS, is known to accumulate in homocystinuria and is metabolized to homocysteate and ho
23 lamin disorders that manifest in both severe homocystinuria and methylmalonic aciduria.
24          The phenotypic similarities between homocystinuria and MFS suggest that elevated homocystein
25 s may contribute to the pathogenesis of both homocystinuria and modest hyperhomocysteinemia.
26      A major focus in attempts to ameliorate homocystinuria and neural tube defects is supplementatio
27  vitamin supplementation in the treatment of homocystinuria and neural tube defects.
28           Severe MTHFR deficiency results in homocystinuria and neurologic impairment.
29 is a promising approach for the treatment of homocystinuria and that ERT for metabolic diseases may n
30 ype of cystathionine beta-synthase-deficient homocystinuria and the positive association of plasma to
31 umerous missense mutations causing inherited homocystinuria and will allow the rational design of com
32 osis, Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others.
33 osinemia type II, argininosuccinic aciduria, homocystinuria, and phenylketonuria demonstrate the meth
34 st common locus of mutations associated with homocystinuria, and, in this study, we have characterize
35 s, and thromboembolism) in patients who have homocystinuria as a result of a deficiency of cystathion
36 apy (ERT) provides long-term amelioration of homocystinuria-associated phenotypes in CBS-deficient mu
37 t c.833T>C is a known causative mutation for homocystinuria, but is not pathogenic when in cis with t
38 eles previously sequenced from patients with homocystinuria by ortholog replacement in Saccharomyces
39          Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of
40                                              Homocystinuria due to cystathionine beta-synthase defici
41 vels but was not observed in mouse models of homocystinuria due to either methylenetetrahydrofolate r
42              Analysis of an archival case of homocystinuria from 1933 and a case of cobalamin C disea
43                      Pyridoxine-unresponsive homocystinuria has lifelong implications for health.
44                             Individuals with homocystinuria have markedly elevated plasma levels of h
45  homocysteine (Hcy), hyperhomocysteinemia or homocystinuria, have been associated with various diseas
46        Cystathionine beta-synthase-deficient homocystinuria (HCU) is a life-threatening disorder of s
47 ssical cystathionine beta-synthase-deficient homocystinuria (HCU) is a life-threatening inborn error
48        Cystathionine beta-synthase-deficient homocystinuria (HCU) is a serious life-threatening inbor
49                                    Classical homocystinuria (HCU) is an inborn error of sulfur amino
50                                      Classic homocystinuria (HCU) is an inherited disorder characteri
51 nic mutations in CBS result in CBS-deficient homocystinuria (HCU) which, if untreated, results in men
52 tathionine beta-synthase (CBS) cause classic homocystinuria (HCU), which is managed by a methionine-r
53                                              Homocystinuria is an inborn error of methionine metaboli
54 n cause of severely elevated homocysteine or homocystinuria is inherited disorders in cystathionine b
55 synthase (CBS) gene in a single patient with homocystinuria, is highly prevalent.
56                                Patients with homocystinuria lack the enzyme cystathionine beta-syntha
57 er biomarkers for maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidem
58 tations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC).
59 ion of PEGylated CBS into the circulation of homocystinuria model mice alters the extra- and intracel
60 fects of mutations that cause human disease (homocystinuria or coronary heart disease).
61 cumented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy
62 viewed the results of neonatal screening for homocystinuria over a period of 32 years in New England.
63 er deciliter in neonatal screening tests for homocystinuria should identify affected infants who have
64 prevalence of osteoporosis among people with homocystinuria suggests that a high serum homocysteine c
65            Deficiency of CBS activity causes homocystinuria, the most frequent disorder of sulfur ami
66  Inherited deficiency of CBS activity causes homocystinuria, the most frequent disorder of sulfur met
67 eficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a su
68  mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene.
69  with MMADHC (the methylmalonic aciduria and homocystinuria type C protein), or CblC, and for support
70       MMADHC (the methylmalonic aciduria and homocystinuria type D protein), commonly referred to as
71 isease was unknown until 1962, when cases of homocystinuria were first associated with vascular disea
72  infants screened during that period, 8 with homocystinuria were identified (1:275,000).
73 r) in the blood typify the childhood disease homocystinuria, whereas modest levels (tens of micromola
74 ketoaciduria (maple syrup urine disease) and homocystinuria, which are currently screened for by the
75            CBS deficiency is associated with homocystinuria, which is known to affect various physiol
76                                              Homocystinuria, which typically results from cystathioni
77          Because patients with rare familial homocystinuria who also carry factor V Leiden have an in